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MLH3

Function

Probably involved in the repair of mismatches in DNA.

Involvement in disease

Hereditary non-polyposis colorectal cancer 7

HNPCC7

An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.

None

The disease is caused by variants affecting the gene represented in this entry.

Colorectal cancer

CRC

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the DNA mismatch repair MutL/HexB family.

Tissue Specificity

Ubiquitous.

Cellular localization

Alternative names

DNA mismatch repair protein Mlh3, MutL protein homolog 3, MLH3

swissprot:Q9UHC1 entrezGene:27030 omim:604395 genbank:NP_055196